Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03037:Rbfox1'

408763

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rbfox1

Ensembl Gene

ENSMUSG00000008658

Gene Name

RNA binding protein, fox-1 homolog (C. elegans) 1

Synonyms

A2bp1, A2bp, FOX1, HRNBP1

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL03037

Quality Score

Status

Chromosome

Chromosomal Location

5703219-7229390 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 7110147 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000155321 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000056416] [ENSMUST00000115841] [ENSMUST00000229741] [ENSMUST00000230658] [ENSMUST00000231088] [ENSMUST00000231194]

AlphaFold

Q9JJ43

Predicted Effect

probably benign
Transcript: ENSMUST00000056416

SMART Domains

Protein: ENSMUSP00000049970
Gene: ENSMUSG00000008658

Domain	Start	End	E-Value	Type
low complexity region	107	118	N/A	INTRINSIC
RRM	137	208	1.77e-24	SMART
Pfam:Fox-1_C	272	362	1.7e-42	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000115841

SMART Domains

Protein: ENSMUSP00000111507
Gene: ENSMUSG00000008658

Domain	Start	End	E-Value	Type
low complexity region	87	98	N/A	INTRINSIC
RRM	117	188	1.77e-24	SMART
Pfam:Fox-1_C	252	341	2.5e-44	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000229741

Predicted Effect

probably benign
Transcript: ENSMUST00000230658

Predicted Effect

probably benign
Transcript: ENSMUST00000231088

Predicted Effect

probably benign
Transcript: ENSMUST00000231194

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The Fox-1 family of RNA-binding proteins is evolutionarily conserved, and regulates tissue-specific alternative splicing in metazoa. Fox-1 recognizes a (U)GCAUG stretch in regulated exons or in flanking introns. The protein binds to the C-terminus of ataxin-2 and may contribute to the restricted pathology of spinocerebellar ataxia type 2 (SCA2). Ataxin-2 is the product of the SCA2 gene which causes familial neurodegenerative diseases. Fox-1 and ataxin-2 are both localized in the trans-Golgi network. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011]
PHENOTYPE: Mice homozygous for a conditional allele activated in the brain exhibit reduced fertility, infrequent spontaneous seizures, increased susceptibility to kainic acid-induced seizures and lethality, and increased neuronal excitation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actl11	T	C	9: 107,807,294 (GRCm39)	L539P	probably damaging	Het
Adam23	A	T	1: 63,610,176 (GRCm39)	Q726L	possibly damaging	Het
Ago1	T	C	4: 126,355,587 (GRCm39)	E74G	probably benign	Het
Atp6v1d	C	A	12: 78,904,122 (GRCm39)		probably benign	Het
Bltp1	C	A	3: 37,023,356 (GRCm39)	S2227R	probably benign	Het
Bltp1	T	C	3: 37,023,357 (GRCm39)	S2229P	probably damaging	Het
Cadm4	T	A	7: 24,200,220 (GRCm39)	L243Q	probably damaging	Het
Camsap2	C	A	1: 136,202,595 (GRCm39)	L1274F	probably damaging	Het
Car10	A	G	11: 92,991,044 (GRCm39)		probably benign	Het
Catsperd	A	T	17: 56,948,583 (GRCm39)	D186V	possibly damaging	Het
Cdc42bpg	A	G	19: 6,361,230 (GRCm39)	Y285C	probably damaging	Het
Cenpi	T	A	X: 133,250,017 (GRCm39)	C599S	possibly damaging	Het
Cln8	A	T	8: 14,944,679 (GRCm39)		probably benign	Het
Cnksr1	T	C	4: 133,962,417 (GRCm39)		probably null	Het
Cripto	C	A	9: 110,772,288 (GRCm39)	W36L	probably benign	Het
Ddx5	T	C	11: 106,672,930 (GRCm39)	N532D	possibly damaging	Het
Dock11	G	T	X: 35,310,699 (GRCm39)		probably benign	Het
Dock8	A	G	19: 25,063,545 (GRCm39)	E249G	probably benign	Het
Espnl	T	C	1: 91,269,643 (GRCm39)	V393A	probably benign	Het
Fhip1b	A	T	7: 105,028,293 (GRCm39)	H885Q	probably benign	Het
Frrs1	T	C	3: 116,696,116 (GRCm39)		probably benign	Het
Fstl4	C	A	11: 53,059,050 (GRCm39)	A503D	possibly damaging	Het
Gda	T	A	19: 21,411,673 (GRCm39)	I42L	possibly damaging	Het
Gprc5d	C	A	6: 135,093,319 (GRCm39)	C196F	probably damaging	Het
Hnrnpa0	A	G	13: 58,275,767 (GRCm39)	F121L	probably damaging	Het
Hsd3b7	C	T	7: 127,400,322 (GRCm39)	H24Y	probably damaging	Het
Ift140	T	C	17: 25,311,368 (GRCm39)	S1188P	probably benign	Het
Lyl1	C	T	8: 85,429,300 (GRCm39)	P3L	possibly damaging	Het
Mcemp1	C	A	8: 3,717,055 (GRCm39)	Y65*	probably null	Het
Mmp16	C	T	4: 17,996,222 (GRCm39)	P104S	probably damaging	Het
Mpst	C	A	15: 78,294,798 (GRCm39)	R177S	probably benign	Het
Nek1	A	T	8: 61,487,086 (GRCm39)	T279S	probably benign	Het
Or1q1	C	T	2: 36,887,560 (GRCm39)	T246I	probably benign	Het
Or1x2	A	T	11: 50,918,117 (GRCm39)	Y96F	probably damaging	Het
Or4c11b	A	G	2: 88,625,299 (GRCm39)	Y191C	probably damaging	Het
Or7g18	T	A	9: 18,786,668 (GRCm39)	I12N	probably damaging	Het
Pard3	A	T	8: 128,032,975 (GRCm39)	T190S	probably benign	Het
Pik3r4	A	G	9: 105,528,012 (GRCm39)	D455G	probably damaging	Het
Piwil4	T	C	9: 14,616,308 (GRCm39)	I756V	possibly damaging	Het
Pkhd1	A	G	1: 20,592,923 (GRCm39)	L1730P	probably benign	Het
Pnpla3	T	C	15: 84,056,960 (GRCm39)	I155T	probably damaging	Het
Prmt8	T	C	6: 127,680,940 (GRCm39)	Y243C	possibly damaging	Het
Rps6ka2	G	A	17: 7,521,849 (GRCm39)		probably null	Het
Scaf8	A	G	17: 3,240,496 (GRCm39)	K623E	probably damaging	Het
Slc26a4	A	T	12: 31,581,686 (GRCm39)		probably benign	Het
Slfn8	T	A	11: 82,894,078 (GRCm39)	I854F	probably damaging	Het
Smarca4	T	C	9: 21,544,231 (GRCm39)		probably benign	Het
Sos1	T	C	17: 80,727,758 (GRCm39)	D775G	probably damaging	Het
Spag17	G	A	3: 99,979,486 (GRCm39)		probably null	Het
Spata31d1d	T	A	13: 59,873,947 (GRCm39)	E1196V	possibly damaging	Het
Sqle	T	A	15: 59,193,246 (GRCm39)	Y208N	probably damaging	Het
Tcl1b5	C	T	12: 105,145,273 (GRCm39)	T79M	probably benign	Het
Tenm3	A	G	8: 48,751,913 (GRCm39)	F959L	possibly damaging	Het
Tnfrsf19	T	A	14: 61,261,721 (GRCm39)	K26I	possibly damaging	Het
Trappc10	A	T	10: 78,034,869 (GRCm39)		probably benign	Het
Trim80	T	C	11: 115,332,419 (GRCm39)	W204R	possibly damaging	Het
Trpm3	A	G	19: 22,866,776 (GRCm39)	T536A	possibly damaging	Het
Ttbk1	G	A	17: 46,757,256 (GRCm39)	T1126I	probably benign	Het
Uaca	A	G	9: 60,748,147 (GRCm39)	D37G	probably damaging	Het
Ube3a	T	C	7: 58,896,971 (GRCm39)		probably benign	Het
Ubqln2	C	T	X: 152,282,692 (GRCm39)	Q415*	probably null	Het
Ugp2	T	A	11: 21,282,540 (GRCm39)	K151*	probably null	Het
Wasf1	A	G	10: 40,806,654 (GRCm39)	K99R	probably benign	Het
Wnt4	C	T	4: 137,016,472 (GRCm39)	T42M	possibly damaging	Het
Zfp54	T	A	17: 21,650,477 (GRCm39)	D17E	probably damaging	Het

Other mutations in Rbfox1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00895:Rbfox1	APN	16	7,187,698 (GRCm39)	missense	probably benign	0.02
IGL01070:Rbfox1	APN	16	7,124,307 (GRCm39)	missense	possibly damaging	0.78
IGL02633:Rbfox1	APN	16	7,110,078 (GRCm39)	missense	probably damaging	0.99
R0006:Rbfox1	UTSW	16	7,148,284 (GRCm39)	missense	probably benign	0.21
R0647:Rbfox1	UTSW	16	7,042,248 (GRCm39)	missense	probably damaging	1.00
R1439:Rbfox1	UTSW	16	7,148,297 (GRCm39)	missense	possibly damaging	0.51
R1656:Rbfox1	UTSW	16	7,124,333 (GRCm39)	splice site	probably benign
R1677:Rbfox1	UTSW	16	7,110,091 (GRCm39)	missense	possibly damaging	0.92
R2155:Rbfox1	UTSW	16	7,111,946 (GRCm39)	missense	possibly damaging	0.91
R3236:Rbfox1	UTSW	16	7,225,892 (GRCm39)	missense	possibly damaging	0.94
R4952:Rbfox1	UTSW	16	7,094,952 (GRCm39)	missense	probably benign	0.00
R4971:Rbfox1	UTSW	16	7,111,952 (GRCm39)	missense	probably damaging	1.00
R5115:Rbfox1	UTSW	16	7,227,636 (GRCm39)	missense	probably damaging	1.00
R5784:Rbfox1	UTSW	16	7,042,203 (GRCm39)	missense	probably damaging	0.96
R6380:Rbfox1	UTSW	16	7,042,214 (GRCm39)	nonsense	probably null
R7102:Rbfox1	UTSW	16	7,187,698 (GRCm39)	missense	probably benign	0.02
R7104:Rbfox1	UTSW	16	7,170,867 (GRCm39)	missense	possibly damaging	0.90
R7218:Rbfox1	UTSW	16	7,111,947 (GRCm39)	missense	probably damaging	1.00
R7348:Rbfox1	UTSW	16	7,225,888 (GRCm39)	nonsense	probably null
R7383:Rbfox1	UTSW	16	6,887,899 (GRCm39)	missense	probably benign	0.17
R7903:Rbfox1	UTSW	16	7,042,375 (GRCm39)	missense	probably benign	0.20
R8161:Rbfox1	UTSW	16	7,094,892 (GRCm39)	missense
R8350:Rbfox1	UTSW	16	7,094,954 (GRCm39)	missense	probably benign	0.17
R8487:Rbfox1	UTSW	16	7,042,319 (GRCm39)	missense	probably damaging	1.00
R8836:Rbfox1	UTSW	16	7,227,605 (GRCm39)	missense	probably benign	0.00
R9253:Rbfox1	UTSW	16	7,111,973 (GRCm39)	missense	probably benign	0.00
R9516:Rbfox1	UTSW	16	7,227,573 (GRCm39)	missense	probably benign	0.01
R9674:Rbfox1	UTSW	16	7,170,885 (GRCm39)	missense	probably benign	0.03

Posted On

2016-08-02